Thursday, March 28, 2013

Aubrey N Brooks and CEP


    This website is for Aubrey Nichole Brooks



Before Transplant!


Now!
Aubrey was born on January 17th, 2008 to Nichole Baughman of Powhatan Point, Ohio. She was a healthy 8lbs. 13oz baby girl. Several weeks after she was born we noticed her diapers were tinted reddish-orange from her urine. After visiting the pediatrician and completing a urinalysis we were told she was fine. Throughout her first year of life she continued to have reddish-orange urine and the doctors assured us that everything was okay. She was admitted for pneumonia in March 2009 and the nurses showed a concern about her urine. They again did a urinalysis which came back negative. However, she was found to be anemic during this stay in the hospital.  From March to June she began to show signs of blistering and scabbing on her face. This then spread to her hands and she began to lose her fingernails. We were misdiagnosed and were treated for impetigo for almost three months. In early June of 2009, we were seen by Dr. Robin Gehris who made her diagnosis. We were informed that she has a rare genetic disease called Congenital Erythropoietic Porphyria (CEP), also known as Gunther's disease. There has been under 200 cases of CEP reported worldwide. As far as we know there are only 8 persons living with this today. Aubrey cannot go outside to play in the daylight because of her disease. This disease causes:
  • extreme photosensitivity to sunlight and fluorescent bulbs
  • blisters on her hands and face, which burst and scar
  • enlarged spleen
  • liver and kidney failure
  • inability to go outside
  • intense pain
Due to Aubrey's condition we are having special windows installed in our home by Amerinat Builders. They block 95.4 % of the UV rays. We also had special window tinting put on our vehicles by C & L Window Tinting and the folks at Made in the Shade found the yellow tint she also needed. This will hopefully help her from getting breakouts. Over time sun exposure will  cause her to lose the tip of her nose, ears, and fingers. In addition, CEP can cause blindness, organ failure, and a shorten life expectancy.  It is imperative that Aubrey wear 100 SPF sunscreen and sun protective clothing at all times.

Here is a link for information on all eight types of porphyria from The American Porphyria Foundation
.  Here is also a link to a great person who helped me with her sun protective clothing UV SUNGEAR. Also, Colleen at Fun Sunwear has make lots of Aubrey's clothing. You can also follow her progress by reading Aubrey's Updates throughout this experience.  Nicholas Ashby has been cured by a bone marrow transplant. To read his story click on his name.

We found out Aubrey's genetic testing results from Mt. Sinai. They found that she has two mutations. One mutation from each parent. Doug and I are both carriers of this disease. They have done testing on Abbagayle to see if she is a match for Aubrey. I banked Abby's cord blood and they could have used that for Aubrey's transplant.  Unfortunately, Abby is not her sisters keeper.

Aubrey was admitted to Children's Hospital of Pittsburgh of UPMC on January 11, 2010. She had a stem cell transplant on January 21, 2010. The donor was a 7 out of 8 match. She is doing well and to stay updated on her progress throughout this experience read her blog by clicking on Aubrey's Updates! Please keep her in your prayers. God Bless you and your family.
Picture of myself

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